Canonical Allele Identifier: CA1127264366
Gene: NAMA HGNC NCBI

Linked Data

dbSNP Id: rs1830193780
gnomAD v3: 9-99356904-G-A
gnomAD v4: 9-99356904-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99356904G>A , CM000671.2:g.99356904G>A GRCh38
NC_000009.11:g.102119186G>A , CM000671.1:g.102119186G>A GRCh37
NC_000009.10:g.101159007G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_102270.1:n.1971-1302C>T
NR_102271.1:n.1419-1302C>T